ArticleJournal of inherited metabolic disease2014
Natural history of Sanfilippo syndrome type A.
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
- Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review.Journal of autism and developmental disorders · 2017Pooled it
- Anakinra in Sanfilippo syndrome: a phase 1/2 trial.Nature medicine · 2024Trial
- Drug screen and machine learning predict neuroprotective agents in a preclinical human model of childhood dementia.Nature communications · 2026Article
- Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.Molecular genetics and metabolism reports · 2025Article
- Initiation of fluoxetine in a pediatric patient with Mucopolysaccharidosis IIIA: Early observations.Molecular genetics and metabolism reports · 2024Article
- Biochemical diagnosis of Sanfilippo disorder types A and B.Journal, genetic engineering & biotechnology · 2023Article
- Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores.Orphanet journal of rare diseases · 2023Article
- Sanfilippo syndrome: consensus guidelines for clinical care.Orphanet journal of rare diseases · 2022Review
- Associations and Disease-Disease Interactions of COVID-19 with Congenital and Genetic Disorders: A Comprehensive Review.Viruses · 2022Review
- Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.Journal of personalized medicine · 2022Article
- Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach.Orphanet journal of rare diseases · 2022Article
- Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.Journal of clinical medicine · 2021Article
- The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.Orphanet journal of rare diseases · 2021Article
- Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative study.Orphanet journal of rare diseases · 2020Review
- Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions.Diagnostics (Basel, Switzerland) · 2020Review
- Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group.Molecular genetics and metabolism reports · 2020Article
- Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats.Molecular genetics and metabolism reports · 2020Article
- Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease.Journal of clinical medicine · 2020Review
- Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice.Molecular genetics and metabolism reports · 2019Article
- Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.Metabolic brain disease · 2019Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo describe the natural history of Sanfilippo syndrome type A.
methodsWe performed a retrospective review of 46 children (21 boys, 25 girls) with Sanfilippo syndrome type A evaluated between January 2000 and April 2013. Assessments included neurodevelopmental evaluations, audiologic testing, and assessment of growth, adaptive behavior, cognitive behavior, motor function, and speech/language skills. Only the baseline evaluation was included for patients who received hematopoietic stem cell transplantation.
resultsMedian age at diagnosis was 35 months, with a median delay between initial symptoms to diagnosis of 24 months. The most common initial symptoms were speech/language delay (48%), dysmorphology (22%), and hearing loss (20%). Early behavioral problems included perseverative chewing and difficulty with toilet training. All children developed sleep difficulties and behavioral changes (e.g., hyperactivity, aggression). More than 93% of the children experienced somatic symptoms such as hepatomegaly (67%), abnormal dentition (39%), enlarged tongue (37%), coarse facial features (76%), and protuberant abdomen (43%). Kaplan-Meier analysis showed a 60% probability of surviving past 17 years of age.
conclusionsSanfilippo type A is characterized by severe hearing loss and speech delay, followed by a rapid decline in cognitive skills by 3 years of age. Significant somatic disease occurs in more than half of patients. Behavioral difficulties presented between 2 and 4 years of age during a rapid period of cognitive decline. Gross motor abilities are maintained during this period, which results in an active child with impaired cognition. Sleep difficulties are concurrent with the period of cognitive degeneration. There is currently an unacceptable delay in diagnosis, highlighting the need to increase awareness of this disease among clinicians.
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